#SyngapCensus
https://www.syngapresearchfund.org/post/syngapcensus-2023-update-59-in-q3-2023-total-1-297
#UFDCure Cannonball - October 4-6
https://www.syngapresearchfund.org/cannonball
Effie on CBall https://effieparks.com/podcast/effisode-074-syngap-cannonball-for-a-cure
Pre-party https://x.com/UFDTech/status/1709366677261987862
Scramble - October 7, 2023
Stories https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-019
Site
https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund
PRAX-222 & ciitizen
Marcio https://youtu.be/ibgINIFPFRk?si=Rtxe3rlTUWdMYGvg
Pressers
9/20 https://www.prnewswire.com/news-releases/invitaes-real-world-ciitizen-data-utilized-in-praxis-precision-medicines-prax-222-ind-filing-301627677.html
10/2 https://investors.praxismedicines.com/news-releases/news-release-details/praxis-precision-medicines-provides-portfolio-update-2023-rd-day
#mustread
Essay by Jennifer: https://effieparks.com/blog/2023/9/30/sometimes-there-is-no-silver-lining
Book: https://www.amazon.com/Self-Compassion-Proven-Power-Being-Yourself/dp/0061733520/
Wild Type Campaign
https://www.bonfire.com/wild-type-syngap1-1/
Conference - Sign up by Halloween - We need head counts.
Registration link: https://Syngap.Fund/Orlando
Hotels: https://Syngap.Fund/2023hotel
Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/
Share your time and blood too!Sign up for ciitizen!Sign up for CHOP!
Volunteer!
Give us 5 stars everywhere. Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 118 of #Syngap10 - October 3, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
October 4, 2023
Music credits:
Title: Storybook
Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music
Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music
Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/
October 3, 2023
Show Notes:
Julie Miles is an SRF Board Member, Volunteer, and organizes the upcoming event ‘Scramble for SynGAP’ in Traveler’s Rest, SC. Miller, the eldest of her three children with husband Michael, is 8 years old and was diagnosed with SYNGAP1 on July 28, 2020. Ashley talks with Julie about developmental delays, genetic testing, a devastating diagnosis, concerns over self-blame, and the joys of watching Miller enjoy music, baseball, spelling, books, and, of course, swimming!
Julie’s SRF Bio
WSPA-7 News Video
Scramble for SynGAP
Follow Ashley Frye:
SRF Bio
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://syngapresearchfund.org
Donate - https://Syngap.Fund/Donate
SYNGAP1 & Epilepsy
Why Getting a Genetic Diagnosis Matters
How to Get Free Genetic Testing
Special Needs Trusts
Connect with SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Weekly Video Podcast w/ Mike
SynGAP Research Fund Apple Podcast Channel
SYNGAP1 Conference 2023, hosted by SRF - Registration
Wednesday SRF Family Zoom Meeting:
Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417
Comments:
[email protected]
Music: In the Forest... by Lesfm from Pixabay
Episode 019 SYNGAP1 Stories, October 3, 2023
#SYNGAP1StoriesMiller #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp19 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Agression #Behavior #Scramble #ScrambleForSyngap #TheCall #Music #Swimming #Baseball #Spelling #Golf #Patience
October 3, 2023
CALLS TO ACTION
Plan on Rare on the Hill - Week of February 25th in DC
Watch #S10e96 https://www.youtube.com/watch?v=MkCKK4Z7J2I
Timeline https://everylifefoundation.org/rare-advocates/rare-disease-week-2023/rare-disease-week-agenda-2024/
Apply for support https://www.surveymonkey.com/r/CJPHMS9
Take this surveySurvey https://unmcmmi.co1.qualtrics.com/jfe/form/SV_bxObDOAeWxesIBM
Tweet https://x.com/PedsGCAbby/status/1706446478904811750
Great papers
Gastrointestinal Dysfunction in Genetically Defined Neurodevelopmental Disorders
https://x.com/cureSYNGAP1/status/1706770818703953955
Context-dependent hyperactivity in syngap1a and syngap1b #zebrafish #autism models
https://x.com/cureSYNGAP1/status/1706772916543893597
Sensorimotor Integration Supporting Perception Requires Syngap1 Expression in Cortex
https://x.com/cureSYNGAP1/status/1707475941348540894?s=20
We’re at 248 before the BioRxiv
https://x.com/cureSYNGAP1/status/1707516877558501652?s=20
Watch the Epic Stanfield Webinar - Behaviour, Cognition and Sensory Processing in People with SYNGAP1
https://www.syngapresearchfund.org/webinars/82-behaviour-cognition-and-sensory-processing-in-people-with-syngap1
Sign up for the next one
10/26 12PM ET Bryan Dickinson, PhD Webinar on Oligos that target translation to restore SYNGAP1 levels
https://www.syngapresearchfund.org/webinars/83-oligos-that-target-translation-to-restore-syngap1-levels
ILAE Interview on MAD https://www.ilae.org/journals/epigraph/epigraph-vol-25-issue-3-summer-2023/research-recap-modified-atkins-diet-and-health-related-quality-of-life-dr-magnhild-kverneland
More Recent Killer Content
Elle (Mickey) Sanderson Special Monthly Zoom Meeting on being an advocate; https://www.youtube.com/watch?v=B1sTsYAfaoA
Café SYNGAP1 dropped 2nd episode 9/27 with Juanita Polanco https://www.syngapresearchfund.org/cafe-syngap1-podcast/cafe-syngap1-episode-02 - next episode 10/5
Simons quarterly report (links to summary, full report, video to help understand charts). Sign up https://www.simonssearchlight.org/research/what-we-study/syngap1/
Upcoming Amazing Events
Cannonball starts Wednesday 10/4-10/6; Brett, Peter, Monica & Reece (works with Brett) $65,000 in giveaways! Live-stream link will be available soon https://www.syngapresearchfund.org/cannonball
Scramble 10/7 Julie Miles in Travelers Rest, SC; she is guest on SYNGAP1 Stories dropping Tues 10/3 - https://www.syngapresearchfund.org/families/scramble-for-syngap-syngap-research-fund; link to Stories - https://www.syngapresearchfund.org/syngap-stories
Park City Epilepsy Mtg 10/15 - 10/17; Mike & JR
10/18 - Mike keynote at The Enabling Patient Access to Health Data for Actionable Results virtual event by the Office of the National Coordinator for Health Information Technology (ONC) and Centers for Medicare and Medicaid Services (CMS)
Gala 10/21 https://www.syngapresearchfund.org/families/caren-leib-gala-syngap-research-fund
Conference - Sign up by Halloween - We need head counts.
- Registration link: https://Syngap.Fund/Orlando
- Hotels: https://Syngap.Fund/2023hotel
- Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/
Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!
- Volunteer!
- Give us 5 stars everywhere. Like Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Episode 117 of #Syngap10 - September 29, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
September 29, 2023
Episodio #02
Bienvenidos de nuevo a Café SynGAP1!
En este episodio nos acompaña una invitada especial, Juanita Polanco. Juanita y su hermosa familia son de California con 5 hijas, dos de ellas son mellizas con Syngap1. Juanita nos cuenta sobre los retos, la experiencia y la esperanza que han vivido.
Nuestra anfitriona Merlina habla con Juanita sobre el diagnóstico, el tiempo que tomó, los cambios, sin duda llenos de altas y bajas pero que han sido de aprendizaje y amor.
Historia de Libby y Espy
Bio de Merlina
Información sobre SRF & SYNGAP1:
Que es SYNGAP1?
Syngap Research Fund
Donaciones: https://Syngap.Fund/Donate
SYNGAP1 & Epilepsia
Porque es Importante Obtener un Diagnóstico Genético
Cómo Obtener Pruebas Genéticas Gratuitas en EEUU
Planificación Financiera Futura para las Personas con Discapacidades
Conéctate con SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Video Podcast Semanal con Mike
Conferencia SYNGAP1 2023, organizado por SRF - Reservaciones de Hotel
Comentarios:
[email protected]
Episode 02 Café SYNGAP1, Septiembre 26, 2023
#CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Charo #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo
September 27, 2023
ONCE UPON A GENE - EPISODE 199
Navigating as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network
Mary McDirmid is a rare mom and Chief Inclusion Officer at Special Abilities Network. She has a passion for advocating for families like ours— families with children who have disabilities and rare diseases. She's here to talk us through the uncomfortable topic of financial and future planning for our rare families.
EPISODE HIGHLIGHTS
How do parents approach planning for their children's future when things feel so uncertain?
If you don't have the capacity to think about it, the first thing to do is to figure out what you can do to create space and capacity. Triage anything that's causing a lot of stress so you can move from caregiver mode to parent mode.
What's the importance of planning when you have a child with disabilities or rare disease?
The importance is that if a child is on any type of state or federal benefit, we want to ensure they keep those benefits. When they turn 18, they're legally an adult and they can only have a certain amount of assets in their name. There's only a couple places we can put money to help them save and not have funds count against their asset limits. It's important to also be able to supplement financial care when you're no longer around. The importance is keeping your child benefit-eligible and to ensure your child is cared for.
What is your advice for parents who don't have the financial resources to save for their child's future?
Apply for state benefits and leverage those resources to find funds. Think about other resources such as family members who can contribute. Examine how your family is spending money and reflect on your personal spending habits to see if there's somewhere to save.
How can families advocate for change around policy and providing better care for our kids?
If you're up for the fight, you have the time, and you have the capacity, think about what you want to achieve, be clear in your ask and be prepared to follow up. If you're considering taking something on, ask yourself if the project benefits from your special skill or expertise, if it serves the community you represent, and what / who you want to be held accountable to.
LINKS & RESOURCES MENTIONED
Dante Labs
https://us.dantelabs.com/
Special Abilities Network
https://specialabilitiesnetwork.com/
TSC Alliance
https://www.tscalliance.org/
State Disability Resource Guides
https://truenorthdisabilityplanning.com/idd-roadmaps
TUNE INTO THE ONCE UPON A GENE PODCAST
Spotify
https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7
Apple Podcasts
https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347
Stitcher
https://www.stitcher.com/podcast/once-upon-a-gene
Overcast
https://overcast.fm/itunes1485249347/once-upon-a-gene
CONNECT WITH EFFIE PARKS
Website
https://effieparks.com/
Twitter
https://twitter.com/OnceUponAGene
Instagram
https://www.instagram.com/onceuponagene.podcast/?hl=en
Built Ford Tough Facebook Group
https://www.facebook.com/groups/1877643259173346/
Interested in advertising on Once Upon a Gene? Email ad
[email protected] for more information!
September 21, 2023
Music Credits:
Title: Storybook
Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music
Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music
Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/
September 19, 2023
Sydney & Brett Stelmaszek are heavily involved in the SRF community. Sydney is on the BOD, is a patient advocate, and coordinates our connection with Children’s Hospital of Philadelphia (CHOP). Brett is the driving force behind Cannonball for the Cure (CFTC), an annual fundraiser where SYNGAP1 parents drive cross country live-streaming the entire journey to raise awareness of SYNGAP1. This episode touches on their involvement with SRF as well as raising their son Emmitt, diagnosed with SYNGAP1 while living in South Africa. Their story of excessive seizures, aggression, hope, and love while caring for Emmitt and his two brothers is at times heart-breaking, but always heartwarming.
Emmitt’s Warrior Story
Eating with Emmitt - Blog Post
Flying & Seizing from Africa to Florida - Emmitt's Story
Sydney’s SRF Bio
Follow Sydney & Brett:
Instagram - @UFD_Tech
Twitter - @SydneyStel & @UFDTech
Facebook - Sydney
YouTube - @UFDTech
YouTube - Our Syngap Journey
More links:
Cannonball for the Cure
Natural History Study at CHOP
SPECIAL WEBINAR: $25M Gift to ENDD for SYNGAP1 and STXBP1
MDBR - Blog Post by Sydney
Follow Ashley Frye:
SRF Bio
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://syngapresearchfund.org
Donate - https://Syngap.Fund/Donate
SYNGAP1 & Epilepsy
Why Getting a Genetic Diagnosis Matters
How to Get Free Genetic Testing
Special Needs Trusts
Connect with SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Weekly Video Podcast w/ Mike
SYNGAP1 Conference 2023, hosted by SRF - Registration
Wednesday SRF Family Zoom Meeting:
Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417
Comments:
[email protected]
Music: In the Forest... by Lesfm from Pixabay
Episode 018 SYNGAP1 Stories, September 19, 2023
#SYNGAP1StoriesEmmitt #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp18 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Agression #Behavior #Cannonball #CFTC #UFD
September 19, 2023
Congrats to… - Allen Burke on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne
- Katrien on the ILAE #SYNGAP10 #S10e115
Webinar coming up:
Behaviour, Cognition and Sensory Processing in People with SYNGAP1
Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg
Sept 28 @ 9am PT/ 5pm GMT
Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s
Events to mention in SYNGAP10
- Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike
- 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!
- Scramble 10/7 Julie Miles https://syngap.fund/scramble
- Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR
- Gala 10/21 Nancy Kessler https://syngap.fund/CLG3
- Conference 11/30 & 12/1 + Sea World or Disney 12/2
Conference - Sign up by Halloween - We need head counts.
- Registration link: https://Syngap.Fund/Orlando
- Hotels: https://Syngap.Fund/2023hotel
- Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/
Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!
- Volunteer!
Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)
- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 116 of #Syngap10 - September 18, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
September 19, 2023
Congrats to… - Allan Blake on his airborne fundraiser for SRF UK - Aaron and Monica Harding on their Military Lifegiver Podcast (start at 7 minutes) - Beacon on their FDA approval on the Sleep Headband Dream 3S - Soiree 8/26 - $300K net raised by Suzanne
- Katrien on the ILAE #SYNGAP10 #S10e115
Webinar coming up:
Behaviour, Cognition and Sensory Processing in People with SYNGAP1
Register: https://us02web.zoom.us/webinar/register/WN_tXX0ZKcgQqm9heZgf0AfDg
Sept 28 @ 9am PT/ 5pm GMT
Still a classic: Mike to FDA on SYNGAP1 For ORCA https://www.youtube.com/watch?v=AObE7NhSlmg&t=447s
Events to mention
- Global Genes, DEI - 9/18 - 9/23 - Vicky and Mike
- 2nd Scientific Conference in Spanish (virtual) 9/23 - Cannonball 10/4-10/6; Brett, Peter, Monica & Reece listen to Stories Episode 12 MH!
- Scramble 10/7 Julie Miles https://syngap.fund/scramble
- Park City Epilepsy Mtg 10/15 - 10/17; Mike, JR
- Gala 10/21 Nancy Kessler https://syngap.fund/CLG3
- Conference 11/30 & 12/1 + Sea World or Disney 12/2
Conference - Sign up by Halloween - We need head counts.
- Registration link: https://Syngap.Fund/Orlando
- Hotels: https://Syngap.Fund/2023hotel
- Shirts: https://www.bonfire.com/srf-syngap1-conference-2023/
Share your time and blood too! - Sign up for ciitizen! - Sign up for CHOP!
- Volunteer!
Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)
- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 116 of #Syngap10 - September 18, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message
September 19, 2023
Katrien Deckers reflects on European 🇪🇺 Epilepsy Conference - #S10e115 (Volume up)
Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson
Dr. Eschermann's Slides https://www.patre.info/2023/09/04/presentation-at-iec-2023/
EURAS Project Press Release https://euras-project.eu/
Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando
- Hotels ASAP: https://Syngap.Fund/2023hotel
- Merch https://www.bonfire.com/srf-syngap1-conference-2023/
Volunteer with SRF!
- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 115 of #Syngap10 - September 17, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
September 17, 2023
Katrien: https://www.syngapresearchfund.org/team/katrien-deckers-chairperson
Dr. Eschermann's Slides https://www.patre.info/2023/09/04/presentation-at-iec-2023/
EURAS Project Press Release https://euras-project.eu/
Register for the SRF Conference, it’s going to be fabulous. - Registration link: https://Syngap.Fund/Orlando
- Hotels ASAP: https://Syngap.Fund/2023hotel
- Merch https://www.bonfire.com/srf-syngap1-conference-2023/
Volunteer with SRF!
- https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 - https://www.syngapresearchfund.org/syngap10-podcastApple podcasts: - https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 115 of #Syngap10 - September 17, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
---
Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message
September 17, 2023
ONCE UPON A GENE - EPISODE 198
Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody
Yssa Dean DeWoody is an incredible advocate and mom, sharing her journey through the intricate world of rare disease advocacy. She unveils the concept of transitioning between the Valerie side, where medical realities are confronted, and the Marie side, where the personal essence of her daughter shines.
EPISODE HIGHLIGHTS
Can you share about your connection to the rare disease world?
Our journey in the rare disease world started about 18 years ago with the birth of our third daughter, Valerie Marie. At three months old, she started having seizures and she was quickly diagnosed with RING14 Chromosome. We had the opportunity to attend an international family conference and it set us on a path to what it was like to be part of the rare disease community. I was inspired by the research and the idea that I could contribute to the community.
Can you tell us about Valerie Marie and why you're so intentional about differentiating between Valerie and Marie separately?
My daughter's full name is Valerie Marie. My family refers to my daughter as Marie. Doctors always referred to her as Valerie. In time, it personified different aspects of my daughter where Marie was my daughter and her personality, her likes and dislikes. Valerie took on the more clinical presentation of her symptoms. If someone called my daughter Valerie, I knew they knew her in a medical sense and I had to create value around her by informing them who she was as a person.
What is your advice for families who want to share their stories effectively with a balance of objectivity and emotion?
Whether it's at an IEP meeting at your child's school, a fundraising talk, or a speech at a large conference, it's best to start in the emotional realm with a hook that draws people in. Start with a personal story that invites the audience into your world in a personal way. Transition into a more scripted conversation guided by organized thoughts, clear ideas and a clear ask. It helps to have a clear outline in advance and know what you want out of it.
Can you share why you donated Valerie's brain to research and what the potential impact is on the rare disease community?
At a research workshop, several experts emphasized the importance of brain donation in the event of a tragedy. There are so many critical questions with RING Chromosomes that might be answered from Valerie's brain donation. As a leader of the foundation with a heart for research, we chose to honor her life and continue her legacy in a way that could impact the community and inform research strategies.
LINKS & RESOURCES MENTIONED
Dante Labs
https://us.dantelabs.com/
RING14 USA
https://ring14usa.com/
TUNE INTO THE ONCE UPON A GENE PODCAST
Spotify
https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7
Apple Podcasts
https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347
Stitcher
https://www.stitcher.com/podcast/once-upon-a-gene
Overcast
https://overcast.fm/itunes1485249347/once-upon-a-gene
CONNECT WITH EFFIE PARKS
Website
https://effieparks.com/
Twitter
https://twitter.com/OnceUponAGene
Instagram
https://www.instagram.com/onceuponagene.podcast/?hl=en
Built Ford Tough Facebook Group
https://www.facebook.com/groups/1877643259173346/
Interested in advertising on Once Upon a Gene? Email ad
[email protected] for more information!
September 14, 2023
Show Notes
Victoria Arteaga is the Director of Fondo de Investigación SYNGAP & SYNGAP1 Mom to Amelia. She works endlessly to help the SYNGAP1 community in Latin America & across the globe, attending and presenting at multiple conferences annually. Vicky discusses Amelia’s progress, the joy she brings to the family, a new service dog, SRF’s latest podcast Café SYNGAP1 in Spanish, and the upcoming Second SYNGAP1 Scientific Conference, also in Spanish.
Amelia’s Warrior Story & Instagram Post
Vicky’s Bio
Follow Vicky:
Instagram - @vickyart78
Instagram Fondo - @syngapamericalatina
Twitter - @VickyAArteaga
More links:
Gomez Family Video (Spanish w/ English subtitles)
Brain & Life Interview - Spanish & English
Café SYNGAP1
Segundo Congreso Científico Syngap1 en Español
Follow Ashley Frye:
SRF Bio
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://syngapresearchfund.org
Donate - https://Syngap.Fund/Donate
SYNGAP1 & Epilepsy
Why Getting a Genetic Diagnosis Matters
How to Get Free Genetic Testing
Special Needs Trusts
Connect with SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Weekly Video Podcast w/ Mike
SYNGAP1 Conference 2023, hosted by SRF - Registration
Wednesday SRF Family Zoom Meeting:
Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417
Comments:
[email protected]
Music: In the Forest... by Lesfm from Pixabay
Episode 017 SYNGAP1 Stories, September 12, 2023
#SYNGAP1StoriesAmelia #Syngap #SYNGAP1 #SYNGAP1Stories #SYNGAP1StoriesEp017 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #ServiceDog
September 12, 2023
Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83
Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818
- Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687
- Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525
CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdk
ILAE Dublin was a great success - - Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023 - Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1
Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addison
Conference - Sign up by Halloween - We need head counts.
- Registration link: https://Syngap.Fund/Orlando
- Hotels ASAP: https://Syngap.Fund/2023hotel
- Shirts https://www.bonfire.com/srf-syngap1-conference-2023/
Presentations
- Pharma - To follow https://syngap.fund/23
- UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agenda
- Sign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/
- It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA.
- If you have issues, email Virginie and Mequel.
CANNONBALL 3 is coming! October 4-6. Takeover coming soon. - Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012
Share your time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)
- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917
Episode 114 of #Syngap10 - September 10, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
September 10, 2023
Video - Thank you Alexis - https://youtu.be/xPbE0vg33eU - Dads in denial! Could be a good t-shirt.Invitae story - https://blog.invitae.com/real-stories-naya-e-c37930c2e83 Pods - Review! Five stars! - Channel :https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917 - S10: https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1/id1560389818 - Stories: https://podcasts.apple.com/us/podcast/syngap1-stories/id1667705687 - Cafe SYNGAP1:: https://podcasts.apple.com/us/podcast/caf%C3%A9-syngap1/id1705809525CHOP - Sign up! https://drive.google.com/file/d/1eCVGmQ5b3RfL0ZiMpjoWIgVpFaSfEVOh/view?usp=drivesdkILAE Dublin was a great success - - Ana’s Tweet: https://twitter.com/CNSdrughunter/status/1699754342125847023 - Ana’s Webinar: https://www.syngapresearchfund.org/webinars/treatments-in-development-for-epilepsy-syndromes-opportunities-for-syngap1Warriors - Sign up - https://www.syngapresearchfund.org/syngap-warrior/addisonConference - Sign up by Halloween - We need head counts. - Registration link: https://Syngap.Fund/Orlando - Hotels ASAP: https://Syngap.Fund/2023hotel - Shirts https://www.bonfire.com/srf-syngap1-conference-2023/ Presentations - Pharma - To follow https://syngap.fund/23 - UCB-Digital Health - Agenda - https://med.stanford.edu/ucbcollaborative/events/2023-digital-health-symposium.html#agendaSign up for Ciitizen. https://www.ciitizen.com/SYNGAP1/SRF/ - It matters, this data is bringing data to companies & making SYNGAP1 more attractive. SHARE YOUR DATA. - If you have issues, email Virginie and Mequel. CANNONBALL 3 is coming! October 4-6. Takeover coming soon. - Monica is going on the road! https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-012 Share your time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here - https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts: https://podcasts.apple.com/us/channel/syngap1-podcasts-by-srf/id6464522917Episode 114 of #Syngap10 - September 10, 2023#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
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Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message
September 10, 2023
ONCE UPON A GENE - EPISODE 197
Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy
Ryan Sheedy is a dadvocate and the Co-Founder of My Mejo. He shares his journey of courage and determination to provide a service for the rare disease community through My Mejo and of being a rare dad.
EPISODE HIGHLIGHTS
Can you tell us about your journey as a rare disease dad?
My wife and I found out unexpectedly that we were having twins and that has been the theme of our journey-- you can think and prepare for what will happen and then throw it out the window because you're not in control. Reynolds and Campbell are five and a half years old. We weren't aware of complications with the twins, my wife had a scheduled c-section and we were excited to meet our babies. When they were born, it wasn't the joyous moment we imagined experiencing because both babies immediately experienced complications. That began our journey of a lot of unanswered questions, research, praying, hoping and tests.
What was the motivation for starting the My Mejo platform?
During the time in the NICU and trying to keep all the information organized and detailing it for sharing, I drafted the idea to solve the problem of remembering everything and connecting the dots. I created a one pager of all Reynolds' key information and I'd provide it to all new providers and therapists. Reynolds was the inspiration for the platform, but I'm inspired daily by the people I get to meet because of the platform. We launched in June 2022 and today we have 1,400 users using the platform across the country.
How does the My Mejo platform work?
My Mejo allows you to collect and consolidate all the information you may need into one place and allows caregivers to provide all the information relating to a child to healthcare professionals or other caretakers. We have a section called Getting to Know Me where parents can note personal details that humanize medical encounters. We work on simplicity everyday- on keeping the platform super simple and very useful. Instead of information being scattered across different places, My Mejo allows you to organize information in a format that is easy on the eye in a version that can be downloaded into a .pdf file, journal, playbook or through text or email with controllable access rights. I should also mention that the platform is completely free for families to use.
LINKS & RESOURCES MENTIONED
Mejo
https://www.mymejo.com/
Global Genes 2023 RARE Advocacy Summit
https://globalgenes.org/event/rare-advocacy-summit/
Costello Syndrome Family Network
https://costellosyndromeusa.org/
Dante Labs
https://us.dantelabs.com/
International Rett Syndrome Foundation
https://www.rettsyndrome.org/
My Rett Ally
https://myrettally.mymejo.com/
TUNE INTO THE ONCE UPON A GENE PODCAST
Spotify
https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7
Apple Podcasts
https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347
Stitcher
https://www.stitcher.com/podcast/once-upon-a-gene
Overcast
https://overcast.fm/itunes1485249347/once-upon-a-gene
CONNECT WITH EFFIE PARKS
Website
https://effieparks.com/
Twitter
https://twitter.com/OnceUponAGene
Instagram
https://www.instagram.com/onceuponagene.podcast/?hl=en
Built Ford Tough Facebook Group
https://www.facebook.com/groups/1877643259173346/
Interested in advertising on Once Upon a Gene? Email ad
[email protected] for more information!
September 7, 2023
Intro music credited to:
Title: Storybook
Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music
Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music
License: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/
September 5, 2023
Super Heroine: Vicky Arteaga
Fondo Syngap is tireless:
- 2 Congreso en Español on September 23, 2023
https://www.syngapresearchfund.org/professionals/2023-en-espanol
Spanish Podcast #CafeSyngap1e01
- YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg
- Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw
- Spotify https://spotify.link/MJZZVMoKGCb
- Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1
#FondoSYNGAP
SRF is at ILAE
- Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6
- Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment
Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani
#SyngapStories #KETO #MAD
- Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20
- Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet
Where have I been all week?
- Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016
Soiree was AMAZING- Tweet https://twitter.com/curesyngap1/status/1696595956467183904- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc
Super Heroine: Sydney Stelmazek
- CHOP Update
- 16 seen so far
- 27 signed up
- QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20
CANNONBALL 3 is coming! October 4-6.
Super Heroine: Dr. Danielle Andrade
Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20
Proposals came in today, we need to raise money!Finally, we have at least 6 grant proposals received! Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate
Share you time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)
- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611
CONFERENCE
Registration link: https://Syngap.Fund/Orlando
Hotels ASAP: https://Syngap.Fund/2023hotel
Shirts https://www.bonfire.com/srf-syngap1-conference-2023/
Volunteer with SRF!
[email protected]
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 113 of #Syngap10 - September 2, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
---
Send in a voice message: https://podcasters.spotify.com/pod/show/syngap10/message
September 2, 2023
Super Heroine: Vicky Arteaga
Fondo Syngap is tireless:
- 2 Congreso en Español on September 23, 2023
https://www.syngapresearchfund.org/professionals/2023-en-espanol
Spanish Podcast #CafeSyngap1e01
- YouTube https://www.youtube.com/watch?v=dh0lPuLLUFg
- Google https://podcasts.google.com/feed/aHR0cHM6Ly9hbmNob3IuZm0vcy9lNjAyMDgwMC9wb2RjYXN0L3Jzcw
- Spotify https://spotify.link/MJZZVMoKGCb
- Amazon Music https://music.amazon.com/podcasts/6e65b878-4506-4882-b6cd-1ea873c0ba7e/caf%C3%A9-syngap1
#FondoSYNGAP
SRF is at ILAE
- Let’s thank Katrien Deckers & Olga for representing SRF at ILAE in Dublin Sep 2nd - 6
- Vicky on one of the panels on Saturday called: Clinical diagnostic challenges in the genetic epilepsies and opportunities for precision treatment
Super Heroine: Ashley Frye with Suzanne Jones and Samar Katnani
#SyngapStories #KETO #MAD
- Samar Interview https://twitter.com/cureSYNGAP1/status/1693987401952342442?s=20
- Keto works, remember this old gem? https://www.syngapresearchfund.org/post/ketogenic-diet
Where have I been all week?
- Syngap Stories about Tony https://www.syngapresearchfund.org/podcast-episodes/syngap1-stories-episode-016
Soiree was AMAZING- Tweet https://twitter.com/curesyngap1/status/1696595956467183904- Ashley’s Speech https://www.youtube.com/watch?v=qw2mG3wTjfc
Super Heroine: Sydney Stelmazek
- CHOP Update
- 16 seen so far
- 27 signed up
- QEEG is SYNGAP1 compatible https://twitter.com/phalliburton/status/1694845802336641315?s=20
CANNONBALL 3 is coming! October 4-6.
Super Heroine: Dr. Danielle Andrade
Huge thanks to Dr. Andrade for this paper on Adults with SYNGAP1 https://twitter.com/DrDaniAndrade/status/1694717693080092976?s=20
Proposals came in today, we need to raise money!Finally, we have at least 6 grant proposals received! Donate and Fundraise! https://www.syngapresearchfund.org/donate/donate
Share you time and blood too!Volunteer - https://www.syngapresearchfund.org/volunteer-with-syngap-research-fund
Donate to the biorepository in OH or IL: - Sept 22, Liberty Township, OH: IRF2BPL Foundation (Home 2 Suites, 7145 Liberty Centre Drive, Liberty Township, OH 45069)
- Sept 29, Chicago, IL: KCNQ2 Cure Alliance Conference, September 29th 2023 (Hilton Hotel Chicago 300 E Ohio St, Chicago, IL 60611
CONFERENCE
Registration link: https://Syngap.Fund/Orlando
Hotels ASAP: https://Syngap.Fund/2023hotel
Shirts https://www.bonfire.com/srf-syngap1-conference-2023/
Volunteer with SRF!
[email protected]
This is a podcast: subscribe to and rate this 10 minute #podcast #SYNGAP10 here
- https://www.syngapresearchfund.org/syngap10-podcast Apple podcasts:
https://podcasts.apple.com/us/podcast/syngap10-weekly-10-minute-updates-on-syngap1-video/id1560389818
Episode 113 of #Syngap10 - September 2, 2023
#epilepsy #autism #intellectualdisability #id #anxiety #raredisease #epilepsyawareness #autismawareness #rarediseaseresearch #SynGAPResearchFund #CareAboutRare #PatientAdvocacy #GCchat #Neurology #GeneChat
September 2, 2023
Show Notes
Going back to school is difficult for most kids and their families, but for those living with SYNGAP1 and other rare diseases, it is especially hard! Mike Graglia, SRF Co-Founder & Managing Director and Dad to Syngapian Tony, joins Ashley again to talk about a crisis his family experienced on Tony's first day at a new school. It's easy to talk about the joy we experience with our special kids, but it can be gut-wrenching to discuss (and hear about) the hard days. That makes it so important to share these stories - to make sure our community and those around us can prepare for these possibilities to the best of our abilities. Please, if you have a story to share, email us at
[email protected]. Thank you for listening!
Tony’s Warrior Story
Mike Graglia’s Bio
Mike & Ashley’s Story
SYNGAP1 Stories Episode 002 - Mike Graglia
More links:
Jackie Kancir’s Bio
Webinar - Severe Behaviors & Advocacy (with Jackie Kancir)
Blog Post - Stella Stays In School: Getting Educational Needs Met
Blog Post - A Message To The Newly Diagnosed SynGAP-1 Parent
Webinar - Your teenager was just diagnosed with SYNGAP1, processing through a new lens
Syngap Soirée
Ashley’s Soirée Video
Follow Ashley Frye:
SRF Bio
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://syngapresearchfund.org
Donate - https://Syngap.Fund/Donate
SYNGAP1 & Epilepsy
Why Getting a Genetic Diagnosis Matters
How to Get Free Genetic Testing
Special Needs Trusts
Connect with SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Weekly Video Podcast w/ Mike
SYNGAP1 Conference 2023, hosted by SRF - Registration
Wednesday SRF Family Zoom Meeting:
Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417
Comments:
[email protected]
Music: In the Forest... by Lesfm from Pixabay
Episode 016 SYNGAP1 Stories, August 30, 2023
#SYNGAP1StoriesTony #SynGAP #SYNGAP1 #SYNGAP1Stories #SYNGAP1Stories16 #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Keto #School #FirstDayOfSchool #NewSchool
August 30, 2023
Show Notes
Samar Katnani, SRF Volunteer and Mom to 3-year-old Syngapian Reema, talks honestly about medications, sharing your story, self-help, anxiety associated with caring for Reema, fake crying, & much more. As with all SYNGAP1 Stories, this one gets very personal, and will benefit all of us, especially others caring for someone with a rare disease. Thank you for listening!
Reema’s Warrior Story
More links:
My Reema
Epilepsy Awareness Day is Every Day for Us Now
Augmentative and Alternative Communication (AAC) device
Follow Ashley Frye:
SRF Bio
LinkedIn
Facebook
Instagram
Nathan’s Warrior Story
SYNGAP1 Stories Episode 001 - Ashley Frye
SRF & SYNGAP1 Info:
What is SYNGAP1?
Syngap Research Fund - https://syngapresearchfund.org
Donate - https://Syngap.Fund/Donate
SYNGAP1 & Epilepsy
Why Getting a Genetic Diagnosis Matters
How to Get Free Genetic Testing
Special Needs Trusts
Connect with SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Weekly Video Podcast w/ Mike
SYNGAP1 Conference 2023, hosted by SRF - Registration
Wednesday SRF Family Zoom Meeting:
Syngap.Fund/SRFfam Meeting ID - 972 0059 2178 Passcode - 848417
Comments:
[email protected]
Music: In the Forest... by Lesfm from Pixabay
Episode 015 SYNGAP1 Stories, August 22, 2023
#SYNGAP1StoriesReema #MyReema #Syngap #SYNGAP1 #SYNGAP1Stories #Epilepsy #EpilepsyAwareness #Autism #AutismAwareness #IntellectualDisability #ID #Anxiety #RareDisease #RareDiseaseResearch #SynGAPResearchFund #CareAboutRare #Advocacy #PatientAdvocacy #Neurology #GeneticTesting #Therapy #Family #Water #Keto #Grandparents #SelfCare
August 22, 2023
Episodio #01
Bienvenidos a nuestro nuevo podcast, Café SynGAP1!
En nuestro primer episodio, nos acompaña Valeria Torcetta, una invitada especial quien nos habla sobre Charo, su hija con Syngap1, y primera paciente diagnosticada en America Latina y Argentina. Nuestra anfitriona Merlina habla con Valeria sobre lo que ha sido el Syngap1 en la vida de Charo como se han enfrentado a los desafíos, su compromiso y labor incansable por dar a conocer esta patología y promover el diagnostico en Argentina.
Historia de Charo
Bio de Merlina
Información sobre SRF & SYNGAP1:
Que es SYNGAP1?
Syngap Research Fund
Donaciones: https://Syngap.Fund/Donate
SYNGAP1 & Epilepsia
Porque es Importante Obtener un Diagnóstico Genético
Cómo Obtener Pruebas Genéticas Gratuitas en EEUU
Planificación Financiera Futura para las Personas con Discapacidades
Conéctate con SRF (@curesyngap1):
Facebook
Twitter
Instagram
LinkedIn
TikTok
SYNGAP10 Video Podcast Semanal con Mike
Conferencia SYNGAP1 2023, organizado por SRF - Reservaciones de Hotel
Comentarios:
[email protected]
Episode 01 Café SYNGAP1, Agosto 21, 2023
#CafeSYNGAP1 #Syngap #SYNGAP1 #CafeSYNGAP1Charo #epilepsia #epilepsy #epilepsyawareness #autismo #autismawareness #discapacidadintelectual #id #enfermedadesraras #FondodeInvestigacionSYNGAP #SynGAPResearchFund #abogacia #advocacy #patientadvocacy #neurologia #pruebasgeneticas #terapias #familia #apoyo
August 21, 2023